Canonical Allele Identifier: CA2627663344
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34793606-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793606C>T , CM000677.2:g.34793606C>T GRCh38
NC_000015.9:g.35085807C>T , CM000677.1:g.35085807C>T GRCh37
NC_000015.8:g.32873099C>T NCBI36
NG_007553.1:g.7121G>A , LRG_388:g.7121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-37G>A (ACTC1)
ENST00000290378.6:c.130-37G>A (ACTC1) MANE Select ENSP00000290378.4:n.130-37G>A
ENST00000647798.1:n.277-37G>A (ACTC1)
ENST00000648556.1:n.287-37G>A (ACTC1)
ENST00000650163.1:n.210-37G>A (ACTC1)
ENST00000290378.4:c.130-37G>A (ACTC1) ENSP00000290378.4:n.130-37G>A
NM_005159.4:c.130-37G>A , LRG_388t1:c.130-37G>A (ACTC1) NP_005150.1:n.130-37G>A
NR_120329.1:n.299+16175C>T (GJD2-DT)
NM_005159.5:c.130-37G>A (ACTC1) MANE Select NP_005150.1:n.130-37G>A
Search 100 bp 5'
Search 100 bp 3'